This ENU induced mutation has an A to G transition at nucleotide 379 of the cDNA, which alters amino acid 44 from the polar and acidic amino acid glutamic acid into the nonpolar neutral amino acid glycine (Glu44Gly). This amino acid resides in the conserved BTB (Bric-a-brac, Tramtrack, Broad-complex) or POZ (Poxvirus zinc finger) domain of the gene. (J:160477)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
--
1
3
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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